Brugada syndrome is a cardiac rhythm abnormality that can lead to re-entrant ventricular tachycardias and ultimately death, which may be sudden, even in those with structurally normal hearts. In fact, Brugada syndrome often is not associated with any telltale symptoms, so many people who suffer from the condition are unaware of the potential danger.
This syndrome has been associated with genetic mutations in, most commonly, the gene SCN5A, which is involved in the creation of myocardial sodium ion channels. Ion channels transport sodium ions into heart muscle cells and are essential for maintaining normal cardiac rhythm. Mutations in this gene can lead to the development of Brugada syndrome, which may be associated with sodium channel abnormalities and early repolarization in the epicardium of the right ventricle.
Brugada syndrome may be treated with preventive measures including avoiding certain medications and reducing fever, and, in some cases, may be managed with the use of an implantable cardioverter-defibrillator (ICD). The key to successful treatment, however, is identifying the presence of the condition. Electrogram recordings are typically used for cardiac mapping, but this data does not provide information about ion channels and overall viability other than the amplitude of the myocardial electrical activity, and even this can depend on contact force between the recording electrode and the myocardial tissue being mapped.